A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308700



Internal ID15155649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9297894..9297895hg38UCSC Ensembl
Innerchr2:9297832..9297957hg38UCSC Ensembl
Outerchr2:9297831..9297958hg38UCSC Ensembl
chr2:9438023..9438024hg19UCSC Ensembl
Innerchr2:9437961..9438086hg19UCSC Ensembl
Outerchr2:9437960..9438087hg19UCSC Ensembl
chr2:9355474..9355475hg18UCSC Ensembl
Innerchr2:9355537..9355412hg18UCSC Ensembl
Outerchr2:9355411..9355538hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837816, essv7837423, essv7836785
SamplesNA19239, NA12892, NA19240
Known GenesASAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308700
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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